NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in SCD (PUSH)

During Visit One, the PUSH Study will perform echocardiography on 600 children and adolescent with patients with sickle cell disease (SCD) and 100 control children and adolescents at three Field Centers, namely Howard University, Children's National Medical Center and University of Michigan. Patients or their parents will be approached and asked to give informed consent. If they appear to have a difficult reading, reading of the consent will be offered. Patients or their parents not appearing to comprehend the consent will not be eligible. As a part of this visit, each participant or parent will sign informed consent, complete a Participant Contact Information Form, complete a Medical History Form, undergo physical examination with completion of a Physical Examination Form and have blood drawn. Each participant must have echocardiography performed with measurement of Tricuspid Regurgitant Jet Velocity (TRV). In addition, attempts will be made 1) to perform a six-minute walk test, 2) to collect information from a recent (within six months) Transcranial Doppler Study (TCD) or to perform TCD, and 3) to perform pulmonary function tests. Study personnel will review all forms for completeness and conduct phlebotomy. Blood will be shipped to the Central Lab. Results of all procedures and tests will be transmitted to the Data Manager at Howard University. Sequencing was only done on sickle cell participants. ]]>
TOPMed Whole Genome Sequencing Methods: Freeze 9TOPMed Whole Genome Sequencing Methods: Freeze 10Inclusion Criteria Ability to give assent or informed consent on the part of the participant, parent or legal guardian as appropriateAge of 3 to 20 yearsDiagnosis of sickle cell disease; Electrophoretic or HPLC documentation of SS, SC, S-β-thalassemia or other major sickling phenotype such as SD, SO-Arab or S Lepore is required. Exclusion CriteriaPresence of a pain crisis that prevents patient from engaging in normal activitiesPresence of acute infection, injury, surgery, asthmatic episode or other acute complicationHemoglobin A only phenotype, hemoglobin S trait or hemoglobin C traitLess than three weeks has elapsed since hospitalization, ER visit, or Doctor's Office visit for pain crisis, acute chest syndrome, infection or other complication of SCD. ]]>
Study Start Date: August 1, 2005Results First Submitted: February 11, 2009Study Completion Date: July 31, 2011]]>